Results 111 to 120 of about 73,869 (327)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Cortical thickness and sulcal depth: insights on development and psychopathology in paediatric epilepsy. [PDF]

, 2015
BackgroundThe relationship between cortical thickness (CThick) and sulcal depth (SDepth) changes across brain regions during development. Epilepsy youth have CThick and SDepth abnormalities and prevalent psychiatric disorders.AimsThis study compared the ...
Caplan, Rochelle, Levitt, Jennifer, Siddarth, Prabha, Tosun, Duygu   +3 more
core   +2 more sources

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Mesial temporal lobe epilepsy with childhood febrile seizure. [PDF]

, 2016
OBJECTIVES: To evaluate the demographic and clinical manifestations of patients with mesial temporal sclerosis and temporal lobe epilepsy (MTS-TLE) with childhood febrile seizure (FS) and establishing the potential differences as compared to those ...
Asadi-Pooya, Ali Akbar, Nei, Maromi, Rostami, Cyrus, Sperling, Michael R.   +3 more
core   +2 more sources

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Absence Epilepsy and Paroxysmal Dyskinesia

Pediatric Neurology Briefs, 2002
Six patients aged 6 to 27 years (mean, 14 years) with childhood absence epilepsy and paroxysmal dyskinesia (PD), identified at five European centers participating in a study group, are reported from Great Ormond Street Hospital, London, UK.
J Gordon Millichap
doaj   +1 more source

Neuropsychomotricity in water: A new rehabilitative tool for neruodevelop-mental disorders [PDF]

, 2018
Neuropsychomotricity in water is a rehabilitative practice that avails itself just of the liquid element, as a mediator of relationships: in water yes they upset all dynamics, be they relational, of equilibrium, of movement and perception, due to the ...
Cerroni F., Chisari M. G., D'Oro L., Di Folco A., Franco S., Gallai B., Geraci D., Lavano F., Lavano S. M., Magliulo R. M., Marotta R., Marsala G., Murabito P., Parisi L., Picciocchi E., Polito A. N., Romano P., Ruberto M., Russo D., Salerno M., Sorrentino M., Testa D., Tripi G.   +22 more
core   +1 more source

Brain Atrophy Associated With Risk Variant rs10191329 Extends Beyond Multiple Sclerosis

Annals of Neurology, EarlyView.
The risk allele rs10191329*A is associated with disease severity and brain atrophy in people with multiple sclerosis (MS). We investigated the association of rs10191329 with age‐related brain atrophy in a population‐based cohort using 10,308 magnetic resonance imaging (MRI) scans of 4,815 participants aged ≥ 45 years without MS in cross‐sectional and ...
Cato E. A. Corsten, Ana M. Marques, Elisabeth J. Vinke, C. Louk de Mol, Rinze F. Neuteboom, M. Kamran Ikram, Mohsen Ghanbari, Frank J. Wolters, Beatrijs Wokke, Meike W. Vernooij, Joost Smolders   +10 more
wiley   +1 more source

P.102 Childhood Absence Epilepsy: Prevalence of treatment resistance and neuropsychiatric comorbidity. [PDF]

, 2021
Martin Lagacé, A. Nicholas, Mary Connolly   +2 more
openalex   +1 more source

Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. [PDF]

, 2014
Seizures are clinically significant manifestations associated with 79%-90% of patients with tuberous sclerosis complex. Often occurring within the first year of life in the form of infantile spasms, seizures interfere with neuropsychiatric, social, and ...
Fallah, Aria, Wang, Shelly
core   +2 more sources